Exploring Personal Genomics

Rapid advances in high-throughput genome sequencing technologies foreshadow a near-future in which millions of individuals will gain affordable access to their complete genome sequence. This promises to offer unprecedented insights into the fundamental biological nature of ourselves and our species: where we came from, how we begin our lives, how we develop and grow, how we interact with our environment, how we get sick, how we get well, and how we age. Personal genomics is an essential component of the inevitable transition towards personalized health and medicine. As the medical establishment begins to explore and evaluate the role of personal genomics in health and medicine, both clinicians and patients alike will gain from becoming well versed in both the power and the pitfalls of personal genomic information. Furthermore, it is likely that all students of the biomedical sciences will soon be required to gain crucial understanding in the emerging field of personal genomics.

Exploring Personal Genomics provides a novel, inquiry-based approach to understanding and interpretation of the practical, medical, physiological, and societal aspects of personal genomic information. The material is presented in two parts: the first provides readers of all backgrounds with a fundamental understanding of the biology of human genomes, information on how to obtain and understand digital representations of personal genomic data, tools and techniques for exploring the personal genomics of ancestry and genealogy, discovery and interpretation of genetic trait associations, and the role of personal genomics in drug response. The second part offers more advanced readers an understanding of the science, tools, and techniques for investigating interactions between a personal genome and the environment, connecting DNA to physiology, and assessing rare variants and structural variation.

This book aims to support undergraduate and graduate and undergraduate studies in medicine, genetics, molecular biology, and bioinformatics. Additionally, the design of the content is such that medical practitioners, professionals working in the biomedical sciences or related fields, and motivated lay individuals interested in exploring their personal genetic data should find it relevant and approachable.

1.1 Introduction
1.2 What is a genome?
1.3 How does a genome work?
1.4 Gene regulation: when and where a gene is expressed
1.5 The human epigenome
1.6 Replication and reproduction
1.7 Genetic variation

Educational resources

Joel T. Dudley is a veteran bioinformatics and genomics researcher with more than 10 years of professional experience studying the genomic basis of species evolution and human disease. He has published more than 35 peer-review research articles pertaining to personal genomics, genomic medicine, pharmacogenomics, drug discovery, bioinformatics, and evolutionary genomics. Joel is currently the Director of Bioinformatics and Assistant Professor of Genetics and Genomics Sciences at Mount Sinai School of Medicine in New York. Joel earned a B.S. in Microbiology from Arizona State University and a Ph.D. in Biomedical Informatics from Stanford University.

Konrad J. Karczewski is a genome scientist, bringing systems-level approaches to the study of human disease biology. He was involved with the pioneering course at Stanford University in Personalized Medicine and Genomics, where he led the development of a platform for personal genotype interpretation, the Interpretome. Konrad earned a B.A. in Molecular Biology from Princeton University and a M.S. in Biomedical Informatics from Stanford University, where he is working towards a Ph.D.